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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-42216054-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42216054&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "STAT5B",
"hgnc_id": 11367,
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_012448.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9998,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.53,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " autosomal dominant, autosomal recessive,Growth hormone insensitivity syndrome with immune dysregulation 2,Growth hormone insensitivity with immune dysregulation 1,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9890416860580444,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 787,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5079,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 2364,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_012448.4",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000293328.8",
"protein_coding": true,
"protein_id": "NP_036580.2",
"strand": false,
"transcript": "NM_012448.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 787,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5079,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 2364,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000293328.8",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012448.4",
"protein_coding": true,
"protein_id": "ENSP00000293328.3",
"strand": false,
"transcript": "ENST00000293328.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 820,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5170,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000951702.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621761.1",
"strand": false,
"transcript": "ENST00000951702.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 787,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5015,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 2364,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000415845.2",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398379.2",
"strand": false,
"transcript": "ENST00000415845.2",
"transcript_support_level": 4
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 787,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5481,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 2364,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000698776.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513923.1",
"strand": false,
"transcript": "ENST00000698776.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 787,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5110,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 2364,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000698777.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513924.1",
"strand": false,
"transcript": "ENST00000698777.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 787,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4986,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 2364,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000903577.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573636.1",
"strand": false,
"transcript": "ENST00000903577.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 787,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3690,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 2364,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000951703.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621762.1",
"strand": false,
"transcript": "ENST00000951703.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 787,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 1767,
"cds_end": null,
"cds_length": 2364,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000951706.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621765.1",
"strand": false,
"transcript": "ENST00000951706.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 787,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3982,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 2364,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000951707.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621766.1",
"strand": false,
"transcript": "ENST00000951707.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 786,
"aa_ref": "A",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5083,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1430,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000698808.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1430C>T",
"hgvs_p": "p.Ala477Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513947.1",
"strand": false,
"transcript": "ENST00000698808.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 786,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5097,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000951701.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621760.1",
"strand": false,
"transcript": "ENST00000951701.1",
"transcript_support_level": null
},
{
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"aa_length": 785,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3810,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 2358,
"cds_start": 1427,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000914417.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1427C>T",
"hgvs_p": "p.Ala476Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584476.1",
"strand": false,
"transcript": "ENST00000914417.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 767,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4920,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 2304,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000903578.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Ala458Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573637.1",
"strand": false,
"transcript": "ENST00000903578.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 766,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5018,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000698778.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513925.1",
"strand": false,
"transcript": "ENST00000698778.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 766,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5152,
"cdna_start": 1724,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000903579.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573638.1",
"strand": false,
"transcript": "ENST00000903579.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 751,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3688,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1433,
"consequences": [
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],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000951705.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621764.1",
"strand": false,
"transcript": "ENST00000951705.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_start": 1593,
"cds_end": null,
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"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000698779.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513926.1",
"strand": false,
"transcript": "ENST00000698779.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 735,
"aa_ref": "A",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4959,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 2208,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000914413.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1277C>T",
"hgvs_p": "p.Ala426Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584472.1",
"strand": false,
"transcript": "ENST00000914413.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 730,
"aa_ref": "A",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000951704.1",
"gene_hgnc_id": 11367,
"gene_symbol": "STAT5B",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621763.1",
"strand": false,
"transcript": "ENST00000951704.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4687,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1037,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000914414.1",
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}